What is laminin alpha 2 chain?

What is laminin alpha 2 chain?

Merosin is an extracellular matrix protein forming the heavy chain of the skeletal muscle basement membrane protein laminin and is important for maintaining the integrity of the sarcolemma.

What is Merosin?

Merosin collectively is a term that refers to a group of laminins that share the alpha2 subunit encoded by the LAMA2 gene. Laminins are a family of high molecular weight glycoproteins that function as extracellular matrix components of the structural basement membrane.

What is LAMA2 gene?

The LAMA2 gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene.

What is laminin in DNA?

The laminins are an important and biologically active part of the basal lamina, influencing cell differentiation, migration, and adhesion. Laminins are heterotrimeric proteins that contain an α-chain, a β-chain, and a γ-chain, found in five, four, and three genetic variants, respectively.

What is congenital muscular dystrophy?

Congenital muscular dystrophy (CMD) is a general term for a group of genetic muscle diseases that occur at birth (congenital) or early during infancy.

What is Merosin deficient muscular dystrophy?

Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show hypotonia, poor suck and cry, and delayed motor development; most never achieve independent ambulation.

What is congenital myotonic muscular dystrophy?

Congenital myotonic dystrophy (CMD) is a multisystem disease affecting many organs in the body. It is caused by a mutation in the DMPK gene. Infants appear weak, and sometimes require help with breathing and feeding. It is usually diagnosed by genetic testing for the targeted gene.

Is limb girdle muscular dystrophy hereditary?

Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition are inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

What is the life expectancy for muscular dystrophy?

Until recently, children with Duchenne muscular dystrophy (DMD) did not often live beyond their teens. However, improvements in cardiac and respiratory care mean that life expectancy is increasing, with many DMD patients reaching their 30s, and some living into their 40s and 50s.

Where is the laminin located?

basement membrane
Laminins, the first ECM glycoproteins detectable in the embryo, are found in basement membrane. Laminins consist of three peptide chains: α, β, and γ.

What are the three subunits of laminin?

Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene. The LAMA2 gene provides instructions for the alpha-2 subunit.

What are the signs and symptoms of laminin α-2 deficiency?

In most patients, laminin α-2 mutations lead to complete absence of laminin α-2 expression in muscle tissue and this is associated with a rather uniform severe phenotype. Patients manifest severe muscle weakness, including facial muscles, and are not able to achieve independent ambulation.

What is another name for the alpha-2 subunit?

The alpha-2 subunit, along with the beta-2 and gamma-1 subunits, also forms another laminin called laminin 4, sometimes known as laminin-221. Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix).

What is the function of laminin 2 in skeletal muscle?

Laminin 2 and laminin 4 play a particularly important role in the muscles used for movement (skeletal muscles). The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers.